Incidental Mutation 'R6574:Degs1'
| ID |
523336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Degs1
|
| Ensembl Gene |
ENSMUSG00000038633 |
| Gene Name |
delta 4-desaturase, sphingolipid 1 |
| Synonyms |
Des1, Mdes |
| MMRRC Submission |
044698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R6574 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
182103529-182110366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 182106638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 207
(Y207C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035295]
[ENSMUST00000133052]
|
| AlphaFold |
O09005 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035295
AA Change: Y243C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: Y243C
| Domain | Start | End | E-Value | Type |
|---|
|
Lipid_DES
|
5 |
43 |
4.36e-20 |
SMART |
|
Pfam:FA_desaturase
|
65 |
293 |
1.1e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132551
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133052
AA Change: Y207C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: Y207C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
37 |
55 |
N/A |
INTRINSIC |
|
Pfam:FA_desaturase
|
59 |
260 |
4.5e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, decreased to absent ceramide levels, decreased body weight, scaly skin, sparse hair, tremors, hematological and blood chemistry abnormalities, decreased bone mineral content and density and decreased liver function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
C |
3: 146,356,613 (GRCm39) |
D98E |
probably benign |
Het |
| Ackr3 |
T |
C |
1: 90,141,790 (GRCm39) |
I83T |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,161,653 (GRCm39) |
|
probably null |
Het |
| Arap1 |
T |
A |
7: 101,053,208 (GRCm39) |
I532N |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,153 (GRCm39) |
V1533A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,875,885 (GRCm39) |
S329G |
possibly damaging |
Het |
| Ccno |
T |
A |
13: 113,124,719 (GRCm39) |
D96E |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,495,693 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,059,107 (GRCm39) |
A63T |
probably benign |
Het |
| Eif4e1b |
T |
C |
13: 54,932,711 (GRCm39) |
F100S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,460,596 (GRCm39) |
Y722* |
probably null |
Het |
| Etfa |
A |
T |
9: 55,402,910 (GRCm39) |
I96N |
probably damaging |
Het |
| Flt4 |
A |
G |
11: 49,516,199 (GRCm39) |
T101A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,781,268 (GRCm39) |
I381T |
probably benign |
Het |
| Gria2 |
A |
G |
3: 80,596,603 (GRCm39) |
V821A |
probably damaging |
Het |
| Gss |
G |
T |
2: 155,423,931 (GRCm39) |
T51K |
probably damaging |
Het |
| Igkv13-84 |
C |
A |
6: 68,916,977 (GRCm39) |
Y91* |
probably null |
Het |
| Iqcb1 |
A |
T |
16: 36,691,863 (GRCm39) |
Q487H |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,234,972 (GRCm39) |
H429Y |
probably benign |
Het |
| Myo1c |
T |
G |
11: 75,547,124 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,129,394 (GRCm39) |
|
probably null |
Het |
| Pcdhga5 |
T |
C |
18: 37,828,434 (GRCm39) |
L294P |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,558,134 (GRCm39) |
L271P |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,549,654 (GRCm39) |
D290G |
probably damaging |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,533 (GRCm39) |
D425G |
probably benign |
Het |
| Ppp2r3d |
G |
A |
9: 101,071,584 (GRCm39) |
P678L |
probably benign |
Het |
| Ptbp2 |
T |
G |
3: 119,541,596 (GRCm39) |
Q147P |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,724,692 (GRCm39) |
S15P |
possibly damaging |
Het |
| Slc25a10 |
T |
C |
11: 120,387,903 (GRCm39) |
F199L |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,197 (GRCm39) |
N801S |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,994,020 (GRCm39) |
Y183H |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,063,086 (GRCm39) |
D520G |
possibly damaging |
Het |
| Trgc3 |
G |
T |
13: 19,445,293 (GRCm39) |
R80S |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,752,360 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,473,331 (GRCm39) |
P803L |
probably benign |
Het |
| Ubash3a |
A |
T |
17: 31,451,370 (GRCm39) |
Q423L |
probably damaging |
Het |
| Ucp1 |
G |
A |
8: 84,020,718 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
T |
17: 18,476,421 (GRCm39) |
N425K |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,181,452 (GRCm39) |
M418V |
probably null |
Het |
|
| Other mutations in Degs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Degs1
|
APN |
1 |
182,106,774 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01766:Degs1
|
APN |
1 |
182,106,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02237:Degs1
|
APN |
1 |
182,107,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02578:Degs1
|
APN |
1 |
182,106,592 (GRCm39) |
nonsense |
probably null |
|
|
IGL03200:Degs1
|
APN |
1 |
182,107,256 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0087:Degs1
|
UTSW |
1 |
182,106,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0126:Degs1
|
UTSW |
1 |
182,107,257 (GRCm39) |
start codon destroyed |
probably null |
0.85 |
|
R0299:Degs1
|
UTSW |
1 |
182,106,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4157:Degs1
|
UTSW |
1 |
182,110,192 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4260:Degs1
|
UTSW |
1 |
182,106,806 (GRCm39) |
missense |
probably benign |
|
|
R4520:Degs1
|
UTSW |
1 |
182,104,373 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4606:Degs1
|
UTSW |
1 |
182,104,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4888:Degs1
|
UTSW |
1 |
182,104,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5366:Degs1
|
UTSW |
1 |
182,106,927 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7023:Degs1
|
UTSW |
1 |
182,106,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7164:Degs1
|
UTSW |
1 |
182,106,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7633:Degs1
|
UTSW |
1 |
182,107,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Degs1
|
UTSW |
1 |
182,104,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7894:Degs1
|
UTSW |
1 |
182,104,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7905:Degs1
|
UTSW |
1 |
182,106,601 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8233:Degs1
|
UTSW |
1 |
182,107,160 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8296:Degs1
|
UTSW |
1 |
182,110,241 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8974:Degs1
|
UTSW |
1 |
182,107,278 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTGCATCCTTAGCAAAG -3'
(R):5'- GTCTGGGTTATCCTTCAGCC -3'
Sequencing Primer
(F):5'- CTGTAGACAAAGGATCTATGTCCTCC -3'
(R):5'- ACCCATTACCTATCTGGAAATCATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation